Incidental Mutation 'IGL02739:Nlk'
ID 305803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlk
Ensembl Gene ENSMUSG00000017376
Gene Name nemo like kinase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 11
Chromosomal Location 78457994-78588199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78465677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
Ref Sequence ENSEMBL: ENSMUSP00000119345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000142739]
AlphaFold O54949
Predicted Effect probably benign
Transcript: ENSMUST00000142739
AA Change: V409A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119345
Gene: ENSMUSG00000017376
AA Change: V409A

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 27 55 N/A INTRINSIC
low complexity region 97 119 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
S_TKc 138 427 3.36e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169128
Predicted Effect probably benign
Transcript: ENSMUST00000170394
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation die either during late gestation or around 4-6 weeks, depending on background. Long survivors exhibit growth retardation, neurological abnormalities, and aberrant differentiation of bone marrow stromal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Nlk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Nlk APN 11 78,480,201 (GRCm39) missense probably damaging 1.00
IGL02186:Nlk APN 11 78,477,762 (GRCm39) missense probably damaging 1.00
IGL02336:Nlk APN 11 78,477,763 (GRCm39) missense probably damaging 1.00
IGL02953:Nlk APN 11 78,517,527 (GRCm39) missense probably benign 0.02
leagues UTSW 11 78,481,831 (GRCm39) splice site probably null
Verne UTSW 11 78,477,892 (GRCm39) nonsense probably null
R0276:Nlk UTSW 11 78,462,301 (GRCm39) missense probably benign 0.01
R0324:Nlk UTSW 11 78,463,257 (GRCm39) missense possibly damaging 0.71
R0636:Nlk UTSW 11 78,586,670 (GRCm39) missense probably benign 0.34
R0639:Nlk UTSW 11 78,463,103 (GRCm39) missense possibly damaging 0.86
R1776:Nlk UTSW 11 78,477,853 (GRCm39) missense probably benign 0.03
R1886:Nlk UTSW 11 78,477,754 (GRCm39) missense probably damaging 1.00
R4330:Nlk UTSW 11 78,481,774 (GRCm39) missense possibly damaging 0.79
R4331:Nlk UTSW 11 78,481,774 (GRCm39) missense possibly damaging 0.79
R5974:Nlk UTSW 11 78,481,792 (GRCm39) missense probably benign 0.39
R6532:Nlk UTSW 11 78,586,881 (GRCm39) missense probably damaging 0.99
R6669:Nlk UTSW 11 78,477,892 (GRCm39) nonsense probably null
R6873:Nlk UTSW 11 78,481,774 (GRCm39) missense possibly damaging 0.79
R7165:Nlk UTSW 11 78,481,793 (GRCm39) nonsense probably null
R7475:Nlk UTSW 11 78,474,225 (GRCm39) missense probably damaging 1.00
R7637:Nlk UTSW 11 78,481,831 (GRCm39) splice site probably null
R8950:Nlk UTSW 11 78,586,758 (GRCm39) missense probably benign 0.41
R9665:Nlk UTSW 11 78,481,753 (GRCm39) missense
Z1176:Nlk UTSW 11 78,474,225 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16